Orphanet: Biochemische Bestimmung der Palmitoyl Protein Thioesterase und der Tripeptidylpeptidase I und molekulare PPT1 , TPP1 , CLN3 , DNAJC5 , CLN5 , CLN6 , MFSD8 , CLN8 , CTSD , GRN , ATP13A2 , CTSF und KCTD7 Gen Diagnostik der neuronalen Ceroid Lipofuszinosen
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Biochemical (analysis of palmitoyl-protein-thioesterase and tripeptidylpeptidase I) and molecular (PPT1, TPP1, CLN3, DNAJC5, CLN5, CLN6, MFSD8, CLN8, CTSD, GRN, ATP13A2, CTSF, and KCTD7 genes) diagnosis of neuronal ceroid lipofuscinoses

  • Labor für klinische Biochemie und molekulare Genetik angeborener Stoffwechselstörungen
  • Universitätsklinik für Kinder- und Jugendheilkunde
  • Medizinische Universität Graz
  • 8036 GRAZ
  • AUSTRIA
  • Director of laboratory : Pr Werner WINDISCHHOFER
  • More information
  • Phone : +43 (0)316 385 84013
  • Additional Phone : -
  • Fax : -
  • Contact
Last update: November 2017

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing
Biochemical genetics
Analyte / Enzyme assay
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List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (13)
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.